seizures, benign familial infantile, 3
Findings
No curated finding names seizures, benign familial infantile, 3 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any benign familial infantile epilepsy in which the cause of the disease is a mutation in the SCN2A gene.
Definition from the Mondo Disease Ontology (MONDO:0011904), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Infantile onset
HPO, annotations 2026-09-02
Features
17 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Bilateral tonic-clonic seizureHPOHP:0002069
- 13 of 13 reported patients
- Frequent (30% to 79% of cases)
- Normal interictal EEGHPOHP:0002372
- 6 of 9 reported patients
- EEG with focal spikesHPOHP:0011193
- Frequent (30% to 79% of cases)
- Focal clonic seizureHPOHP:0002266
- Frequent (30% to 79% of cases)
- Neonatal seizureHPOHP:0032807
- Frequent (30% to 79% of cases)
- Tonic seizureHPOHP:0032792
- Frequent (30% to 79% of cases)
Show the remaining 5
- Staring gazeHPOHP:0025401
- Occasional (5% to 29% of cases)
- VertigoHPOHP:0002321
- Occasional (5% to 29% of cases)
- Continuous spike and waves during slow sleepHPOHP:0031491
- Very rare (1% to 4% of cases)
- Mental deteriorationHPOHP:0001268
- Very rare (1% to 4% of cases)
- Neurodevelopmental abnormalityHPOHP:0012759
- 0 of 13 reported patients
Genes
2 genes
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
Where it sits
Other names
6 names
Resolves to: seizures, benign familial infantile, 3
- Also called
- benign familial infantile epilepsy caused by mutation in SCN2Abenign familial neonatal-infantile seizuresbenign neonatal-infantile epilepsyBFIS3BFNISSCN2A benign familial infantile epilepsy